A large genomic deletion leads to enhancer adoption by the lamin B1 gene: A second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Human Molecular Genetics

Volumn 24, Issue 11, 2014, Pages 3143-3154

  Giorgio, Elisa ^a   Robyr, Daniel ^b   Spielmann, Malte ^c   Ferrero, Enza ^a   Di Gregorio, Eleonora ^a,d   Imperiale, Daniele ^e   Vaula, Giovanna ^d   Stamoulis, Georgios ^b   Santoni, Federico ^b   Atzori, Cristiana ^e   Gasparini, Laura ^f   Ferrera, Denise ^f   Canale, Claudio ^f   Guipponi, Michel ^b   Pennacchio, Len A ^g   Antonarakis, Stylianos E ^b   Brussino, Alessandro ^a   Brusco, Alfredo ^a,d  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^e Centro Regionale Malattie Da Prioni Domp (ASLTO2)   (Italy)

^f ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^g LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE 7 A1; GRAM DOMAIN CONTAINING 3; LAMIN B; LAMIN B1; MYELIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT ONSET DEMYELINATING LEUKODYSTROPHY; ANIMAL EXPERIMENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME REARRANGEMENT; COMPUTER MODEL; CONTROLLED STUDY; DEMYELINATING DISEASE; ENHANCER REGION; FRONTAL LOBE; GENE DELETION; GENE OVEREXPRESSION; GRAY MATTER; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; LEUKODYSTROPHY; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; TISSUE DEGENERATION; ANIMAL; CELL CULTURE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDY; GENETICS; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; TRANSGENIC MOUSE;

ANIMALS; BASE SEQUENCE; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; HUMANS; LAMIN TYPE B; MALE; MICE, TRANSGENIC; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; SEQUENCE DELETION;

EID: 84930714663     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv065     Document Type: Article

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